catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117198027CAT/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-1489_1393-1488delTA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117198029_117198030del    UCSC    
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry:
  • c.54-10943G>A - p.(?) : 100.00%
  • c.350G>A - p.(Arg117His) : 100.00%
    • WT sequence TAATTGTGGTGAAATGTACATAACA TA AAATTTATCATTTTGACCATTTTTA
    Mutant sequence TAATTGTGGTGAAATGTACATAACA -- AAATTTATCATTTTGACCATTTTTA


    Additional information:
    MAF (GnomAD) 1.61e-03
    Splicing prediction (SpliceAI) AG: 0.00 (31)
    AL: 0.00 (-9)
    DG: 0.00 (31)
    DL: 0.00 (0)




    External sources:

    Not found
    Not found    		dbSNP
    rs556236192
    Not found

    Variant validation:
    Sanger
    (present/not present/not verified)
    		 Minigene
    (effect/no effect/not performed)
    not verifiednot performed



    No patient found in CFTR-France


    5 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

    TOTAL NUMBER OF INDIVIDUALS 5
    CF 1
    CFTR-RD1
    • CFTR-RD  1
    Pending (NBS) 1
    Suspicion of CF 2



    Details of NGS patients:
    ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
    9282CFMontpellier160218_varilhheterozygous PASS 3029 178
    cad190199CFTR-RDMontpellier150419_Altieriheterozygous PASS 1301 99
    cad190205Pending (NBS)Montpellier150419_Altieriheterozygous PASS 1766 121
    cad200209Suspicion of CFMontpellier151220_Altieriheterozygous PASS 395 30
    cad200210Suspicion of CFMontpellier151220_Altieriheterozygous PASS 244 28





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